PUF60 — 307 ClinVar variants
All ClinVar germline PUF60 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →
51 Pathogenic · 9 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 6 Conflicting · 3 Benign · 9 Benign/Likely benign · 66 Likely benign · 114 Uncertain significance
Full PUF60 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 100
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PUF60 p.Asp159Asn
Pathogenic/Likely pathogenic
Multiple submitters
8q24.3 microdeletion syndrome
- PUF60 p.Gly341Arg Likely pathogenic Single submitter
-
PUF60 p.Asp553Gly
Pathogenic
No assertion criteria
intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PUF60 p.Ala522Val
Conflicting
Single submitter
8q24.3 microdeletion syndrome
-
PUF60 p.Arg146Cys
Conflicting
Single submitter
8q24.3 microdeletion syndrome
-
PUF60 p.Tyr229Ser
Conflicting
Single submitter
8q24.3 microdeletion syndrome
-
PUF60 p.Val517Gly
Conflicting
Single submitter
8q24.3 microdeletion syndrome
Predictors lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PUF60 p.Glu524Gln
Uncertain significance
Multiple submitters
PUF60-related disorder
- PUF60 p.Gly270Ser Uncertain significance Multiple submitters
-
PUF60 p.Ile497Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PUF60 p.Tyr177Cys
Uncertain significance
Multiple submitters
8q24.3 microdeletion syndrome
- PUF60 p.Ala124Val Uncertain significance Single submitter
- PUF60 p.Ala150Pro Uncertain significance Single submitter
- PUF60 p.Ala22Val Uncertain significance Single submitter
- PUF60 p.Ala231Val Uncertain significance Single submitter
- PUF60 p.Ala24Val Uncertain significance Single submitter
- PUF60 p.Ala25Thr Uncertain significance Single submitter
-
PUF60 p.Arg223Gln
Uncertain significance
Single submitter
8q24.3 microdeletion syndrome
- PUF60 p.Arg227Cys Uncertain significance Single submitter
- PUF60 p.Arg298Gln Uncertain significance Single submitter
-
PUF60 p.Asn226Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PUF60 p.Gln13Pro Uncertain significance Single submitter
-
PUF60 p.Gln459Arg
Uncertain significance
Single submitter
8q24.3 microdeletion syndrome
- PUF60 p.Glu414Asp Uncertain significance Single submitter
-
PUF60 p.Glu62Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- PUF60 p.Gly12Ser Uncertain significance Single submitter
- PUF60 p.Gly153Val Uncertain significance Single submitter
- PUF60 p.Gly196Arg Uncertain significance Single submitter
- PUF60 p.Gly268Val Uncertain significance Single submitter
-
PUF60 p.Gly349Ala
Uncertain significance
Single submitter
8q24.3 microdeletion syndrome
- PUF60 p.Gly365Ala Uncertain significance Single submitter
-
PUF60 p.Gly488Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PUF60 p.Gly55Trp Uncertain significance Single submitter
- PUF60 p.His526Arg Uncertain significance Single submitter
-
PUF60 p.Ile200Ser
Uncertain significance
Single submitter
8q24.3 microdeletion syndrome
- PUF60 p.Ile228Asn Uncertain significance Single submitter
- PUF60 p.Ile512Thr Uncertain significance Single submitter
- PUF60 p.Leu67Ile Uncertain significance Single submitter
-
PUF60 p.Lys416Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PUF60 p.Lys473Arg Uncertain significance Single submitter
-
PUF60 p.Lys80Arg
Uncertain significance
Single submitter
8q24.3 microdeletion syndrome
- PUF60 p.Met117Leu Uncertain significance Single submitter
-
PUF60 p.Pro205Ser
Uncertain significance
Single submitter
8q24.3 microdeletion syndrome
- PUF60 p.Pro205Thr Uncertain significance Single submitter
-
PUF60 p.Pro305Leu
Uncertain significance
Single submitter
8q24.3 microdeletion syndrome
-
PUF60 p.Pro315Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PUF60 p.Pro351Ala
Uncertain significance
Single submitter
PUF60-related disorder
-
PUF60 p.Pro351Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PUF60 p.Pro356Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PUF60 p.Pro35Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PUF60 p.Pro391Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PUF60 p.Pro407Leu Uncertain significance Single submitter
- PUF60 p.Pro407Ser Uncertain significance Single submitter
- PUF60 p.Pro426Ser Uncertain significance Single submitter
- PUF60 p.Pro431Gln Uncertain significance Single submitter
-
PUF60 p.Pro431Leu
Uncertain significance
Single submitter
8q24.3 microdeletion syndrome
- PUF60 p.Pro472Arg Uncertain significance Single submitter
-
PUF60 p.Ser396Leu
Uncertain significance
Single submitter
8q24.3 microdeletion syndrome
-
PUF60 p.Thr409Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- PUF60 p.Val10Ile Uncertain significance Single submitter
- PUF60 p.Val131Ala Uncertain significance Single submitter
-
PUF60 p.Val339Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
PUF60 p.Val463Glu
Uncertain significance
Single submitter
8q24.3 microdeletion syndrome
- PUF60 p.Val546Ala Uncertain significance Single submitter
- PUF60 p.Arg387Gly Uncertain significance No assertion criteria
Predictors split 35
The independent predictors disagree with each other — read with care.
- PUF60 p.Ala447Thr Uncertain significance Multiple submitters
-
PUF60 p.Ala559Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PUF60 p.Arg121Trp
Uncertain significance
Multiple submitters
8q24.3 microdeletion syndrome
-
PUF60 p.Arg123Trp
Likely pathogenic
Multiple submitters
8q24.3 microdeletion syndrome
-
PUF60 p.Gly47Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PUF60 p.Thr462Ala
Uncertain significance
Multiple submitters
8q24.3 microdeletion syndrome
- PUF60 p.Ala89Thr Uncertain significance Single submitter
- PUF60 p.Arg448Gln Uncertain significance Single submitter
- PUF60 p.Arg457His Uncertain significance Single submitter
-
PUF60 p.Arg467Gly
Likely pathogenic
Single submitter
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
- PUF60 p.Arg495Cys Uncertain significance Single submitter
- PUF60 p.Asn468Lys Uncertain significance Single submitter
- PUF60 p.Asn554Ser Uncertain significance Single submitter
- PUF60 p.Asp476Asn Uncertain significance Single submitter
- PUF60 p.Gln147Glu Uncertain significance Single submitter
-
PUF60 p.Gln503Arg
Uncertain significance
Single submitter
8q24.3 microdeletion syndrome
- PUF60 p.Glu142Lys Uncertain significance Single submitter
- PUF60 p.Glu337Lys Uncertain significance Single submitter
-
PUF60 p.Glu480Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- PUF60 p.Gly209Arg Uncertain significance Single submitter
-
PUF60 p.Gly382Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- PUF60 p.Gly382Val Uncertain significance Single submitter
- PUF60 p.Leu59Val Uncertain significance Single submitter
- PUF60 p.Lys514Asn Uncertain significance Single submitter
- PUF60 p.Phe152Tyr Uncertain significance Single submitter
-
PUF60 p.Pro151Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PUF60 p.Pro154Leu Uncertain significance Single submitter
- PUF60 p.Pro320Leu Uncertain significance Single submitter
- PUF60 p.Pro61Leu Uncertain significance Single submitter
- PUF60 p.Ser443Leu Uncertain significance Single submitter
- PUF60 p.Thr304Ala Uncertain significance Single submitter
-
PUF60 p.Thr484Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PUF60 p.Trp536Arg Uncertain significance Single submitter
- PUF60 p.Val392Ala Uncertain significance Single submitter
-
PUF60 p.Arg467Cys
Uncertain significance
No assertion criteria
PUF60-related disorder
All PUF60 variants
Pathogenic 51
- p.Arg198fs Multiple submitters Inborn genetic diseases
- p.Arg448Ter Multiple submitters PUF60-related disorder
- p.Gln210Ter Multiple submitters 8q24.3 microdeletion syndrome
- p.Gln91Ter Multiple submitters 8q24.3 microdeletion syndrome
- p.Glu524Ter Multiple submitters 8q24.3 microdeletion syndrome
- p.Met128fs Multiple submitters 8q24.3 microdeletion syndrome
- c.208-1G>A Single submitter 8q24.3 microdeletion syndrome
- c.510+1G>T Single submitter Inborn genetic diseases
- c.510+2T>A Single submitter 8q24.3 microdeletion syndrome
- p.Ala126fs Single submitter Inborn genetic diseases
- p.Ala283fs Single submitter 8q24.3 microdeletion syndrome
- p.Ala335fs Single submitter 8q24.3 microdeletion syndrome
- p.Ala357fs Single submitter 8q24.3 microdeletion syndrome
- p.Arg130Cys Single submitter
- p.Arg204fs Single submitter Inborn genetic diseases
- p.Asp239fs Single submitter
- p.Gln212Ter Single submitter
- p.Gln278Ter Single submitter PUF60-related disorder
- p.Gln336Ter Single submitter 8q24.3 microdeletion syndrome
- p.Gln375Ter Single submitter intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- p.Gln437Ter Single submitter 8q24.3 microdeletion syndrome
- p.Gln453Ter Single submitter
- p.Gln503fs Single submitter Inborn genetic diseases
- p.Glu188Ter Single submitter PUF60-related disorder
- p.Ile136fs Single submitter
- p.Leu364fs Single submitter 8q24.3 microdeletion syndrome
- p.Lys168fs Single submitter 8q24.3 microdeletion syndrome
- p.Lys332fs Single submitter
- p.Lys72_Tyr73insTer Single submitter 8q24.3 microdeletion syndrome
- p.Met287fs Single submitter 8q24.3 microdeletion syndrome
- p.Phe225fs Single submitter 8q24.3 microdeletion syndrome
- p.Pro385fs Single submitter 8q24.3 microdeletion syndrome
- p.Ser18fs Single submitter
- p.Ser206fs Single submitter 8q24.3 microdeletion syndrome
- p.Ser238fs Single submitter 8q24.3 microdeletion syndrome
- p.Ser285fs Single submitter 8q24.3 microdeletion syndrome
- p.Ser396Ter Single submitter
- p.Ser558fs Single submitter
- p.Thr166fs Single submitter Inborn genetic diseases
- p.Trp162Ter Single submitter 8q24.3 microdeletion syndrome
- p.Tyr274Ter Single submitter 8q24.3 microdeletion syndrome
- p.Val233fs Single submitter 8q24.3 microdeletion syndrome
- p.Val299fs Single submitter
- p.Val483fs Single submitter Inborn genetic diseases
- p.Asp553Gly No assertion criteria intellectual disability-cardiac anomalies-short stature-joint laxity syndrome ⚠
- p.Gln212fs No assertion criteria 8q24.3 microdeletion syndrome
- p.Gly250fs No assertion criteria 8q24.3 microdeletion syndrome
- p.Leu95fs No assertion criteria 8q24.3 microdeletion syndrome
- p.Lys301Ter No assertion criteria 8q24.3 microdeletion syndrome
- p.Lys69fs No assertion criteria intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- p.Val483Ala No assertion criteria 8q24.3 microdeletion syndrome
Pathogenic/Likely pathogenic 9
- c.510+1G>A Multiple submitters PUF60-related disorder
- p.Ala150_Phe152del Multiple submitters 8q24.3 microdeletion syndrome
- p.Arg130His Multiple submitters 8q24.3 microdeletion syndrome
- p.Arg298fs Multiple submitters
- p.Asn207fs Multiple submitters 8q24.3 microdeletion syndrome
- p.Asp159Asn Multiple submitters 8q24.3 microdeletion syndrome ⚠
- p.Glu181Lys Multiple submitters 8q24.3 microdeletion syndrome
- p.Gly491Arg Multiple submitters PUF60-related disorder
- p.Ser238Ter Multiple submitters 8q24.3 microdeletion syndrome
Likely pathogenic 49
- c.1381-2A>G Multiple submitters 8q24.3 microdeletion syndrome
- p.Arg123Trp Multiple submitters 8q24.3 microdeletion syndrome ⚠
- p.Val299Glu Multiple submitters 8q24.3 microdeletion syndrome
- c.1008+1G>A Single submitter
- c.207+1G>A Single submitter 8q24.3 microdeletion syndrome
- c.207+1G>C Single submitter 8q24.3 microdeletion syndrome
- c.604-1G>C Single submitter 8q24.3 microdeletion syndrome
- c.604-2A>C Single submitter
- c.604-2A>G Single submitter
- p.Ala370fs Single submitter 8q24.3 microdeletion syndrome
- p.Ala522_Ser523insTer Single submitter PUF60-related disorder
- p.Arg123Pro Single submitter 8q24.3 microdeletion syndrome
- p.Arg130Pro Single submitter 8q24.3 microdeletion syndrome
- p.Arg467Gly Single submitter neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities ⚠
- p.Asp471fs Single submitter PUF60-related disorder
- p.Cys255fs Single submitter
- p.Cys487Arg Single submitter 8q24.3 microdeletion syndrome
- p.Gln281Ter Single submitter 8q24.3 microdeletion syndrome
- p.Gln362Ter Single submitter PUF60-related disorder
- p.Gln369Ter Single submitter 8q24.3 microdeletion syndrome
- p.Gln37Ter Single submitter
- p.Gln437fs Single submitter 8q24.3 microdeletion syndrome
- p.Gln64Ter Single submitter 8q24.3 microdeletion syndrome
- p.Gln92Ter Single submitter 8q24.3 microdeletion syndrome
- p.Gln93Ter Single submitter 8q24.3 microdeletion syndrome
- p.Gly134Ser Single submitter intellectual disability
- p.Gly268fs Single submitter 8q24.3 microdeletion syndrome
- p.Gly341Arg Single submitter ⚠
- p.Gly491Glu Single submitter
- p.His169Tyr Single submitter 8q24.3 microdeletion syndrome
- p.His526fs Single submitter
- p.Ile155fs Single submitter 8q24.3 microdeletion syndrome
- p.Ile158fs Single submitter 8q24.3 microdeletion syndrome
- p.Ile214_Ile215insTer Single submitter 8q24.3 microdeletion syndrome
- p.Ile42fs Single submitter
- p.Lys253fs Single submitter 8q24.3 microdeletion syndrome
- p.Lys34Ter Single submitter
- p.Met160fs Single submitter Inborn genetic diseases
- p.Met160Thr Single submitter
- p.Met450fs Single submitter 8q24.3 microdeletion syndrome
- p.Pro395fs Single submitter
- p.Ser520fs Single submitter 8q24.3 microdeletion syndrome
- p.Thr311fs Single submitter
- p.Thr366fs Single submitter
- p.Tyr138Ter Single submitter PUF60-related disorder
- p.Tyr177His Single submitter
- p.Val165fs Single submitter
- p.Val542Glu Single submitter 8q24.3 microdeletion syndrome
- p.Lys527fs No assertion criteria PUF60-related disorder
Conflicting classifications of pathogenicity 6
- p.Ala522Val Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Arg146Cys Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Glu486del Single submitter Inborn genetic diseases
- p.Ile498del Single submitter Inborn genetic diseases
- p.Tyr229Ser Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Val517Gly Single submitter 8q24.3 microdeletion syndrome ⚠
Benign 3
- c.1380+7A>G Single submitter
- c.297+9C>T Single submitter 8q24.3 microdeletion syndrome
- c.603+55C>T Single submitter
Benign/Likely benign 9
- p.Ala25_Val26insAla Multiple submitters intellectual disability
- p.Ala25dup Multiple submitters 8q24.3 microdeletion syndrome
- p.Ala52Thr Multiple submitters
- p.Glu418= Multiple submitters 8q24.3 microdeletion syndrome
- p.Glu422= Multiple submitters
- p.Lys251= Multiple submitters
- p.Pro20= Multiple submitters
- p.Ser443= Multiple submitters
- p.Ser523= Multiple submitters
Likely benign 66
- c.818-8G>A Multiple submitters
- p.Ala51= Multiple submitters
- p.Arg259= Multiple submitters
- p.Gly16Ala Multiple submitters Inborn genetic diseases
- p.Pro389del Multiple submitters syndromic intellectual disability
- p.Ser192= Multiple submitters
- p.Tyr73= Multiple submitters
- c.111+13A>G Single submitter
- c.112-16C>T Single submitter
- c.1145-18T>G Single submitter
- c.1145-6C>T Single submitter
- c.1381-11C>T Single submitter
- c.208-3C>T Single submitter
- c.25-14C>T Single submitter
- c.348+3C>T Single submitter
- c.349-14_349-13del Single submitter
- c.510+18G>A Single submitter
- c.511-4C>T Single submitter
- c.603+13G>A Single submitter
- c.604-13G>A Single submitter
- c.817+20G>A Single submitter
- c.817+7T>A Single submitter
- p.Ala182= Single submitter
- p.Ala21= Single submitter
- p.Ala22= Single submitter
- p.Ala29= Single submitter
- p.Ala343= Single submitter
- p.Ala89= Single submitter
- p.Arg130= Single submitter
- p.Arg430Gln Single submitter Inborn genetic diseases
- p.Arg430Leu Single submitter Inborn genetic diseases
- p.Asp216= Single submitter
- p.Asp239= Single submitter
- p.Asp556= Single submitter
- p.Gln281= Single submitter
- p.Gln77= Single submitter
- p.Glu432= Single submitter
- p.Glu506= Single submitter
- p.Gly270= Single submitter
- p.Ile475= Single submitter
- p.Leu187= Single submitter
- p.Leu413= Single submitter
- p.Phe174= Single submitter
- p.Pro408= Single submitter
- p.Pro426= Single submitter
- p.Ser18= Single submitter
- p.Ser355= Single submitter
- p.Ser406Gly Single submitter Inborn genetic diseases
- p.Ser435= Single submitter
- p.Ser446= Single submitter
- p.Thr256= Single submitter
- p.Thr330= Single submitter
- p.Thr381= Single submitter
- p.Thr39Ile Single submitter 8q24.3 microdeletion syndrome
- p.Thr409Met Single submitter
- p.Thr462= Single submitter
- p.Tyr137= Single submitter
- p.Tyr274= Single submitter
- p.Val27Ala Single submitter Inborn genetic diseases
- p.Val496= Single submitter
- p.Val543= Single submitter
- c.1381-3C>T No assertion criteria PUF60-related disorder
- c.24+1873C>A No assertion criteria PUF60-related disorder
- c.24+1874C>T No assertion criteria PUF60-related disorder
- p.Glu518= No assertion criteria PUF60-related disorder
- p.Val470= No assertion criteria PUF60-related disorder
Uncertain significance 114
- p.Ala447Thr Multiple submitters ⚠
- p.Ala559Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg121Trp Multiple submitters 8q24.3 microdeletion syndrome ⚠
- p.Glu178del Multiple submitters Inborn genetic diseases
- p.Glu524Gln Multiple submitters PUF60-related disorder ⚠
- p.Gly270Ser Multiple submitters ⚠
- p.Gly47Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile497Val Multiple submitters Inborn genetic diseases ⚠
- p.Thr462Ala Multiple submitters 8q24.3 microdeletion syndrome ⚠
- p.Tyr177Cys Multiple submitters 8q24.3 microdeletion syndrome ⚠
- c.1009-4G>A Single submitter
- c.1381-3_1381-2del Single submitter 8q24.3 microdeletion syndrome
- c.25-2A>G Single submitter
- c.25-7_25-3del Single submitter
- c.297+6C>T Single submitter Inborn genetic diseases
- c.348+4A>C Single submitter
- c.511-27_511-4del Single submitter Paediatric disorders
- c.817+5G>C Single submitter 8q24.3 microdeletion syndrome
- p.Ala124Val Single submitter ⚠
- p.Ala150Pro Single submitter ⚠
- p.Ala22Val Single submitter ⚠
- p.Ala231Val Single submitter ⚠
- p.Ala24Val Single submitter ⚠
- p.Ala25Thr Single submitter ⚠
- p.Ala544fs Single submitter
- p.Ala89Thr Single submitter ⚠
- p.Arg223Gln Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Arg227Cys Single submitter ⚠
- p.Arg298Gln Single submitter ⚠
- p.Arg448Gln Single submitter ⚠
- p.Arg457His Single submitter ⚠
- p.Arg495Cys Single submitter ⚠
- p.Asn226Thr Single submitter Inborn genetic diseases ⚠
- p.Asn468Lys Single submitter ⚠
- p.Asn554Ser Single submitter ⚠
- p.Asp476Asn Single submitter ⚠
- p.Gln13Pro Single submitter ⚠
- p.Gln147Glu Single submitter ⚠
- p.Gln369_Ala370insProGln Single submitter
- p.Gln459Arg Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Gln503Arg Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Glu142Lys Single submitter ⚠
- p.Glu337Lys Single submitter ⚠
- p.Glu414Asp Single submitter ⚠
- p.Glu480Gly Single submitter Inborn genetic diseases ⚠
- p.Glu524fs Single submitter 8q24.3 microdeletion syndrome
- p.Glu62Lys Single submitter Inborn genetic diseases ⚠
- p.Gly12Ser Single submitter ⚠
- p.Gly153Val Single submitter ⚠
- p.Gly196Arg Single submitter ⚠
- p.Gly209Arg Single submitter ⚠
- p.Gly268Val Single submitter ⚠
- p.Gly349Ala Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Gly365Ala Single submitter ⚠
- p.Gly382Asp Single submitter Inborn genetic diseases ⚠
- p.Gly382Val Single submitter ⚠
- p.Gly488Ala Single submitter Inborn genetic diseases ⚠
- p.Gly55Trp Single submitter ⚠
- p.His526Arg Single submitter ⚠
- p.Ile200Ser Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Ile215del Single submitter
- p.Ile228Asn Single submitter ⚠
- p.Ile512Thr Single submitter ⚠
- p.Leu557Thr Single submitter
- p.Leu59Val Single submitter ⚠
- p.Leu67Ile Single submitter ⚠
- p.Lys201= Single submitter 8q24.3 microdeletion syndrome
- p.Lys416_Lys417del Single submitter
- p.Lys416Arg Single submitter Inborn genetic diseases ⚠
- p.Lys473Arg Single submitter ⚠
- p.Lys514Asn Single submitter ⚠
- p.Lys80Arg Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Met117Leu Single submitter ⚠
- p.Phe152Tyr Single submitter ⚠
- p.Pro151Ser Single submitter Inborn genetic diseases ⚠
- p.Pro154Leu Single submitter ⚠
- p.Pro205Ser Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Pro205Thr Single submitter ⚠
- p.Pro305Leu Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Pro315Leu Single submitter Inborn genetic diseases ⚠
- p.Pro320Leu Single submitter ⚠
- p.Pro351Ala Single submitter PUF60-related disorder ⚠
- p.Pro351Ser Single submitter Inborn genetic diseases ⚠
- p.Pro356Ser Single submitter Inborn genetic diseases ⚠
- p.Pro35Ser Single submitter Inborn genetic diseases ⚠
- p.Pro377Ala Single submitter
- p.Pro391Leu Single submitter Inborn genetic diseases ⚠
- p.Pro407Leu Single submitter ⚠
- p.Pro407Ser Single submitter ⚠
- p.Pro426Ser Single submitter ⚠
- p.Pro431Gln Single submitter ⚠
- p.Pro431Leu Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Pro472Arg Single submitter ⚠
- p.Pro61Leu Single submitter ⚠
- p.Ser396Leu Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Ser443Leu Single submitter ⚠
- p.Ter560Ser Single submitter
- p.Thr263del Single submitter
- p.Thr304Ala Single submitter ⚠
- p.Thr409Lys Single submitter Inborn genetic diseases ⚠
- p.Thr484Ala Single submitter Inborn genetic diseases ⚠
- p.Trp33Ter Single submitter 8q24.3 microdeletion syndrome
- p.Trp536Arg Single submitter ⚠
- p.Val10Ile Single submitter ⚠
- p.Val131Ala Single submitter ⚠
- p.Val339Met Single submitter Inborn genetic diseases ⚠
- p.Val392Ala Single submitter ⚠
- p.Val463Glu Single submitter 8q24.3 microdeletion syndrome ⚠
- p.Val542= Single submitter
- p.Val546Ala Single submitter ⚠
- p.Arg387Gly No assertion criteria ⚠
- p.Arg467Cys No assertion criteria PUF60-related disorder ⚠
- p.Glu423del No assertion criteria
- p.Ser443Ter No assertion criteria